Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4594
Gene name	Methylmalonyl-CoA mutase
Gene symbol	MMUT
Synonyms (NCBI Gene)	MCMMUT
Chromosome	6
Chromosome location	6p12.3
Summary	This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme ma

165

Show/Hide all (165)

SNP ID	Visualize variation	Clinical significance	Consequence
rs12175488	C>A,G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs115923556	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121918248	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs121918249	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918250	G>T	Pathogenic	Missense variant, coding sequence variant
rs121918251	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918252	C>A	Pathogenic	Missense variant, coding sequence variant
rs121918253	C>A	Pathogenic	Stop gained, coding sequence variant
rs121918254	C>G,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918255	C>G	Pathogenic	Missense variant, coding sequence variant
rs121918256	T>A	Pathogenic	Missense variant, coding sequence variant
rs121918257	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918258	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs140600746	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs143023066	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs145682249	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147715336	C>T	Pathogenic	Coding sequence variant, missense variant
rs148091558	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs148285323	C>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs150642856	G>A	Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs190834116	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs200019422	C>A	Pathogenic	Splice donor variant
rs200055428	A>C	Pathogenic	Coding sequence variant, missense variant
rs200596762	G>A	Pathogenic	Coding sequence variant, stop gained
rs200908035	T>A,C	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs368790885	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs372486357	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs398123276	T>C	Pathogenic	Splice acceptor variant
rs398123277	AGA>-	Uncertain-significance, pathogenic	Inframe deletion, coding sequence variant
rs398123278	G>A	Pathogenic	Coding sequence variant, stop gained
rs483352778	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs533755473	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs535411418	C>A	Pathogenic	Missense variant, coding sequence variant
rs547709692	G>A	Likely-benign, pathogenic	Coding sequence variant, missense variant
rs564069299	C>T	Pathogenic	Missense variant, coding sequence variant
rs727504020	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs727504022	C>T	Pathogenic	Missense variant, coding sequence variant
rs746085723	A>T	Pathogenic	Splice donor variant
rs746274670	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs747777227	->T	Pathogenic	Stop gained, coding sequence variant
rs747897332	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs750619189	A>G	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs752898811	->T	Pathogenic	Coding sequence variant, frameshift variant
rs753288303	C>T	Pathogenic	Coding sequence variant, missense variant
rs753564352	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs754369323	C>G,T	Pathogenic	Splice acceptor variant
rs757000253	T>A	Pathogenic	Missense variant, coding sequence variant
rs758008398	->ATAAATTC	Pathogenic	Coding sequence variant, frameshift variant
rs758577372	C>T	Pathogenic	Missense variant, coding sequence variant
rs760782399	G>T	Pathogenic	Missense variant, coding sequence variant
rs761477436	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs761525156	G>A	Pathogenic	Coding sequence variant, stop gained
rs761773115	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs764173488	A>T	Pathogenic	Coding sequence variant, stop gained
rs765284825	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs765373403	AGA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs767593892	G>A	Pathogenic	Coding sequence variant, missense variant
rs768608311	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs769348060	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs770466993	G>C,T	Pathogenic	Coding sequence variant, stop gained
rs771021560	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771542321	C>-	Pathogenic	Splice donor variant, coding sequence variant
rs772552898	G>A	Pathogenic	Coding sequence variant, missense variant
rs772888575	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs774159791	G>A	Pathogenic	Stop gained, coding sequence variant
rs775593146	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs776176938	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs777031588	T>C	Pathogenic, uncertain-significance	Intron variant
rs777758903	G>A	Pathogenic	Missense variant, coding sequence variant
rs778702777	C>T	Pathogenic	Missense variant, coding sequence variant
rs779990936	G>A	Pathogenic	Stop gained, coding sequence variant
rs780068818	G>A	Pathogenic	Stop gained, coding sequence variant
rs780283588	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs780387525	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs781474200	T>C	Pathogenic	Missense variant, coding sequence variant
rs796052002	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs796052004	T>C	Pathogenic	Missense variant, coding sequence variant
rs796052005	T>C	Pathogenic	Missense variant, coding sequence variant
rs796052006	A>T	Pathogenic	Splice donor variant
rs796052007	A>G	Pathogenic	Missense variant, coding sequence variant
rs796052008	CC>TA	Pathogenic	Stop gained, coding sequence variant
rs796052009	->CCT	Likely-pathogenic	Coding sequence variant, inframe insertion
rs863224898	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs864309733	A>G	Pathogenic	Coding sequence variant, missense variant
rs864309734	C>A	Pathogenic	Coding sequence variant, missense variant
rs864309735	T>C	Pathogenic	Coding sequence variant, missense variant
rs864309736	A>T	Pathogenic	Coding sequence variant, missense variant
rs864309737	T>C	Pathogenic	Coding sequence variant, missense variant
rs864309738	A>G	Pathogenic	Coding sequence variant, missense variant
rs864309739	A>C	Pathogenic	Coding sequence variant, missense variant
rs869320653	T>C	Pathogenic	Coding sequence variant, missense variant
rs879253820	A>G	Pathogenic	Missense variant, initiator codon variant
rs879253821	->T	Pathogenic	Frameshift variant, coding sequence variant
rs879253822	C>T	Pathogenic	Splice acceptor variant
rs879253823	->C	Pathogenic	Frameshift variant, coding sequence variant
rs879253824	G>A	Pathogenic	Stop gained, coding sequence variant
rs879253825	C>T	Pathogenic	Stop gained, coding sequence variant
rs879253826	A>C,G	Likely-benign, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs879253827	G>T	Pathogenic	Coding sequence variant, missense variant
rs879253828	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253829	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253830	G>C	Pathogenic	Coding sequence variant, missense variant
rs879253831	TCT>-	Pathogenic	Inframe deletion, coding sequence variant
rs879253832	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253833	G>C	Pathogenic	Coding sequence variant, missense variant
rs879253834	G>A,C	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs879253835	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253836	C>T	Pathogenic	Stop gained, coding sequence variant
rs879253837	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253838	C>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs879253839	T>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs879253840	A>T	Pathogenic	Coding sequence variant, missense variant
rs879253841	->A	Pathogenic	Frameshift variant, coding sequence variant
rs879253842	G>A	Pathogenic	Coding sequence variant, missense variant
rs879253843	ACATTAACAAAA>-	Pathogenic	Intron variant
rs879253844	C>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs879253845	G>A	Pathogenic	Coding sequence variant, missense variant
rs879253846	A>G	Pathogenic	Coding sequence variant, missense variant
rs879253847	T>C	Pathogenic	Coding sequence variant, missense variant
rs879253848	G>A	Pathogenic	Stop gained, coding sequence variant
rs879253849	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs879253850	->GCAG	Pathogenic	Frameshift variant, coding sequence variant
rs879253851	CGGC>TTCCA	Pathogenic	Frameshift variant, coding sequence variant
rs879253852	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041957	->TCCA	Pathogenic	Frameshift variant, coding sequence variant
rs886042128	A>C,G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, missense variant
rs887126161	G>A	Pathogenic	Stop gained, coding sequence variant
rs941483851	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs965316043	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1026703654	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs1028877309	C>T	Likely-pathogenic	Splice donor variant
rs1064793768	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1064796328	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1085307929	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1085308002	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1164271240	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1192889987	A>G,T	Likely-pathogenic	Splice donor variant
rs1227030642	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1238694184	G>A	Pathogenic	Stop gained, coding sequence variant
rs1313120333	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1346775255	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1405705785	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1437477079	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1446389693	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1460509686	C>T	Likely-pathogenic	Intron variant
rs1467385866	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1476515561	TGCAGTACGGACAATATTATTGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554158325	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554158372	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554158377	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554158379	T>C	Pathogenic	Splice acceptor variant
rs1554158754	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554159942	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1554159950	GC>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1554160198	C>T	Likely-pathogenic	Splice donor variant
rs1554160246	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554160638	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1554160743	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554160919	->A	Pathogenic	Coding sequence variant, stop gained
rs1554161054	T>A	Pathogenic	Coding sequence variant, stop gained
rs1561952122	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1561959114	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1581815342	G>C	Pathogenic	Intron variant
rs1581832011	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1581834906	C>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0003924	Function	GTPase activity	IDA	20876572
GO:0004494	Function	Methylmalonyl-CoA mutase activity	IBA
GO:0004494	Function	Methylmalonyl-CoA mutase activity	IDA	24458, 1978672, 2453061, 21138732, 28943303
GO:0004494	Function	Methylmalonyl-CoA mutase activity	IEA
GO:0004494	Function	Methylmalonyl-CoA mutase activity	IMP	27167370, 28101778
GO:0005515	Function	Protein binding	IPI	20876572, 21138732, 28497574, 28943303, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	28943303
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	28943303
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	2567699
GO:0005759	Component	Mitochondrial matrix	IDA	24458
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006790	Process	Sulfur compound metabolic process	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016866	Function	Intramolecular transferase activity	IEA
GO:0019678	Process	Propionate metabolic process, methylmalonyl pathway	IBA
GO:0031419	Function	Cobalamin binding	IBA
GO:0031419	Function	Cobalamin binding	IDA	1978672, 20876572, 21138732, 28943303
GO:0031419	Function	Cobalamin binding	IEA
GO:0042802	Function	Identical protein binding	IDA	20876572
GO:0042802	Function	Identical protein binding	IPI	20876572
GO:0042803	Function	Protein homodimerization activity	IDA	20876572
GO:0043547	Process	Positive regulation of GTPase activity	IDA	20876572, 28497574
GO:0044281	Process	Small molecule metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050667	Process	Homocysteine metabolic process	IDA	20031578
GO:0072341	Function	Modified amino acid binding	IDA	20031578
GO:1901290	Process	Succinyl-CoA biosynthetic process	IEA

MIM	HGNC	e!Ensembl
609058	7526	ENSG00000146085

P22033

Protein name

Methylmalonyl-CoA mutase, mitochondrial (MCM) (EC 5.4.99.2) (Methylmalonyl-CoA isomerase)

Protein function

Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermedia

PDB

2XIJ , 2XIQ , 3BIC , 8DYJ , 8DYL , 8GJU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01642	MM_CoA_mutase	62 → 574	Methylmalonyl-CoA mutase	Family
PF02310	B12-binding	615 → 733	B12 binding domain	Domain

Sequence

MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLI
WHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESN
KFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLE
KMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMK
IIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDE
FAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTE
QDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPK
VADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARID
SGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTEC
AASGDGNILALAVDASRARCTVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSA
IKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQ
AVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSN
VFGPGTRIPKAAVQVLDDIEKCLEKKQQSV

Sequence length

750

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation Glyoxylate and dicarboxylate metabolism Propanoate metabolism Metabolic pathways Carbon metabolism Cobalamin transport and metabolism		Cobalamin (Cbl, vitamin B12) transport and metabolism Defective MMAA causes methylmalonic aciduria type cblA Defective MUT causes methylmalonic aciduria mut type Propionyl-CoA catabolism

747

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs2127417136, rs760782399, rs779990936	RCV001814450 RCV001814093 RCV001814114
Familial cancer of breast	Likely pathogenic; Pathogenic	rs763208217, rs796052006	RCV005925696 RCV005892141
Likely inborn error of metabolism	Pathogenic; Likely pathogenic	rs727504020, rs887126161, rs746274670	RCV005865251 RCV005865378 RCV005865377
Lung cancer	Pathogenic	rs543029288	RCV005931446
Methylmalonic acidemia	Pathogenic; Likely pathogenic	rs2127415956, rs1297307718, rs483352778, rs1767683356, rs1767096752, rs1179778233, rs121918248, rs121918249, rs121918251, rs121918252, rs121918254, rs121918256, rs121918257, rs121918258, rs746556715 View all (58 more)	RCV003155405 RCV003331146 RCV000781608 RCV004587286 RCV002222976 RCV002266258 RCV001553684 RCV003114172 RCV000780493 RCV000781613 RCV002271364 RCV000587363 RCV001192656 RCV005417409 RCV002281826 RCV001193927 RCV002307410 RCV002308614 RCV005406615 RCV005239474 RCV004700564 RCV006263729 RCV001290650 RCV001193326 RCV001192655 RCV002509286 RCV000589433 RCV000781610 RCV001192657 RCV000585983 RCV001193329 RCV000589534 RCV000588430 RCV001193325 RCV003317150 RCV004586622 RCV001293610 RCV000780492 RCV005406950 RCV003317720 RCV003479815 RCV005240826 RCV001844176 RCV001192658 RCV005239086 RCV000587657 RCV000586630 RCV000587544 RCV005240372 RCV001193330 RCV004586869 RCV001805790 RCV001805788 RCV000780491 RCV001293582 RCV001193331 RCV001193327 RCV001193332 RCV000781609 RCV001199896 RCV001269118 RCV000781614 RCV002282308 RCV000780494 RCV003230575 RCV001174604 RCV000781611 RCV006265276 RCV001264490 RCV004689970 RCV001193328 RCV004526821 RCV003317472 RCV000781612
Methylmalonic aciduria	Pathogenic	rs777758903, rs887126161	RCV004798808 RCV004798853
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency	Pathogenic; Likely pathogenic	rs2127415956, rs2127418705, rs483352778, rs1767096752, rs121918248, rs121918249, rs121918250, rs121918252, rs121918253, rs121918254, rs121918256, rs121918257, rs746556715, rs727504020, rs727504022 View all (41 more)	RCV001826159 RCV001826160 RCV001271722 RCV005608684 RCV001831507 RCV001271724 RCV005606631 RCV001276629 RCV001826404 RCV001276633 RCV001271716 RCV001271723 RCV005608687 RCV001271707 RCV001831956 RCV001271709 RCV001833111 RCV001835712 RCV001271714 RCV001271719 RCV001827993 RCV001276628 RCV001833170 RCV001271706 RCV001271710 RCV001833169 RCV001833168 RCV005606657 RCV001835726 RCV001271720 RCV001271704 RCV001829801 RCV001276634 RCV001835087 RCV001829838 RCV001276632 RCV001829835 RCV001271712 RCV001271715 RCV001829849 RCV001829864 RCV001271703 RCV001835905 RCV001829855 RCV005606691 RCV001830454 RCV001830442 RCV001271711 RCV001830569 RCV001829903 RCV001271708 RCV005606703 RCV001825635 RCV001832454 RCV001835353 RCV001826711
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic; Likely pathogenic	rs200735240, rs1254433398, rs1437477079, rs483352778, rs201741770, rs776430285, rs2127417916, rs2127420084, rs2127419415, rs1767683356, rs768521956, rs1554158777, rs1767556193, rs1319034847, rs763208217 View all (192 more)	RCV001327988 RCV002504646 RCV002499803 RCV000664555 RCV004699419 RCV001614474 RCV001783648 RCV001782446 RCV002307773 RCV005250228 RCV005635382 RCV005622146 RCV002503617 RCV002307807 RCV003314719 RCV002250118 RCV000203362 RCV000203407 RCV000175568 RCV000174456 RCV000670836 RCV000203390 RCV000203309 RCV000203340 RCV000203381 RCV005869773 RCV000179277 RCV001535925 RCV002306553 RCV002309683 RCV002309941 RCV002307932 RCV002308202 RCV002309162 RCV002309280 RCV002309416 RCV002310230 RCV002468749 RCV005860312 RCV005622198 RCV000210837 RCV000669261 RCV000203318 RCV000642162 RCV000666436 RCV005637746 RCV000672182 RCV000666877 RCV000203406 RCV001027998 RCV000203410 RCV000203324 RCV000203399 RCV000203325 RCV000203344 RCV000203377 RCV000203346 RCV000203354 RCV000203339 RCV000203368 RCV000203328 RCV000203322 RCV000236154 RCV000235587 RCV000236665 RCV000236075 RCV000235505 RCV000236801 RCV000236096 RCV000236596 RCV000236003 RCV000235426 RCV000236497 RCV000235906 RCV000236977 RCV000236522 RCV000236997 RCV000235702 RCV000236170 RCV000236897 RCV000236310 RCV000235506 RCV000236687 RCV000236100 RCV000235526 RCV000236822 RCV000236010 RCV000235437 RCV000236505 RCV000236147 RCV000236526 RCV000235708 RCV000237003 RCV000236434 RCV000235849 RCV000236911 RCV000236199 RCV000236938 RCV000236350 RCV000235867 RCV000210826 RCV000210845 RCV003144002 RCV000378555 RCV003334450 RCV003338198 RCV003388859 RCV004819254 RCV005622244 RCV003983778 RCV000671026 RCV000667041 RCV000668157 RCV000666698 RCV005632421 RCV000667884 RCV003446136 RCV000551650 RCV000578434 RCV000578275 RCV000665393 RCV000664980 RCV000625839 RCV000625791 RCV000671673 RCV000673187 RCV000674579 RCV000664627 RCV000670332 RCV000672926 RCV000667997 RCV000668034 RCV000673129 RCV000669595 RCV000671362 RCV000666070 RCV000666980 RCV000673208 RCV000672535 RCV000665213 RCV000672555 RCV000664805 RCV000666577 RCV000667278 RCV000670315 RCV000675042 RCV000668699 RCV000670351 RCV000666288 RCV000670581 RCV000674323 RCV000665776 RCV000669279 RCV000674054 RCV000669202 RCV000669290 RCV000667361 RCV000672834 RCV000673042 RCV000672079 RCV000669883 RCV000669504 RCV000668074 RCV000666245 RCV005357949 RCV000696572 RCV000689404 RCV000701062 RCV000721981 RCV004819233 RCV002493428 RCV002245670 RCV000814597 RCV000853349 RCV000987712 RCV000995811 RCV001029829 RCV001169874 RCV004819241 RCV003989653 RCV001250096 RCV001257420 RCV001257419 RCV001257418 RCV001257417 RCV001257416 RCV001257415 RCV001257414 RCV001257413 RCV001257412 RCV001257411 RCV001257410 RCV001257409 RCV001257408 RCV001257407 RCV001257406 RCV001257405 RCV001261626 RCV001261627 RCV001263781 RCV001263782 RCV001264152 RCV001264153 RCV001264154 RCV001264155 RCV001264156 RCV001264157 RCV001264158 RCV001264159 RCV001264279 RCV001264280 RCV001264281 RCV001264282 RCV001264283 RCV001280916 RCV001283794 RCV002498378 RCV000175566
METHYLMALONIC ACIDURIA, mut(-) TYPE	Pathogenic	rs121918252, rs121918253, rs2127419920	RCV000001958 RCV000001959 RCV000001960
METHYLMALONIC ACIDURIA, mut(0) TYPE	Pathogenic; Likely pathogenic	rs483352778, rs121918248, rs121918249, rs121918250, rs121918251, rs121918254, rs121918255, rs121918256, rs121918257, rs121918258, rs1581819081, rs1412463565, rs796052005, rs879253820	RCV000502227 RCV000001954 RCV000001955 RCV000001956 RCV000001957 RCV000001961 RCV000001962 RCV000001963 RCV000001964 RCV000001965 RCV000001966 RCV000001967 RCV004527369 RCV000714689
MMUT-related disorder	Pathogenic; Likely pathogenic	rs121918251, rs121918254, rs121918257, rs775593146, rs1554159950, rs771542321, rs887126161, rs780387525, rs769348060, rs1446389693, rs147715336	RCV004752675 RCV004752676 RCV004752677 RCV004730921 RCV004752953 RCV004752987 RCV004752988 RCV003411570 RCV003403555 RCV003420175 RCV003403616
Neonatal encephalopathy	Pathogenic	rs2481339303	RCV003154087
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1289671563	RCV005909248
See cases	Pathogenic	rs398123278	RCV002251962

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	Conflicting classifications of pathogenicity	rs753461919	RCV003226362
Gastric cancer	Benign; Likely benign	rs750770186	RCV005870701
Glioma susceptibility 1	Benign; Likely benign	rs750770186	RCV005870698
Hepatocellular carcinoma	Benign	rs9473555	RCV005917140
Malignant tumor of esophagus	Benign; Likely benign	rs141825870, rs750770186	RCV005898639 RCV005870699
Malignant tumor of urinary bladder	Uncertain significance	rs770946713	RCV005930372
Nonpapillary renal cell carcinoma	Likely benign	rs1465358046	RCV005912842
Peroxisome biogenesis disorder 8A (Zellweger)	Conflicting classifications of pathogenicity	rs541001298	RCV001250072
Peroxisome biogenesis disorder 8B	Conflicting classifications of pathogenicity	rs541001298	RCV001250072
Sarcoma	Benign; Likely benign	rs750770186	RCV005870700
Thymoma	Likely benign	rs144665233	RCV005912664
Uterine carcinosarcoma	Benign; Likely benign	rs750770186	RCV005870702

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Stimulate	37052042
Carcinoma Pancreatic Ductal	Associate	26063742
Colonic Neoplasms	Associate	26063742
Dimauro disease	Inhibit	1970180
Dimauro disease	Associate	1970180
Genetic Diseases Inborn	Associate	1970180
Genetic Diseases Inborn	Inhibit	32068834
Hypersensitivity Delayed	Associate	40243530
Hypoproteinemia	Associate	36275653
Inflammation	Associate	39596217
Lethargy	Associate	40243530
Metabolism Inborn Errors	Associate	38168585
Methylmalonic acidemia	Associate	1670635, 1671869, 17966092, 1968706, 1970180, 19955418, 21471, 21604717, 23479330, 25299208, 29265583, 29996803, 31056463, 31449969, 32013889 View all (9 more)
Methylmalonic acidemia	Inhibit	26420839, 30428564
Methylmalonic aciduria cblA type	Associate	10882753
Methylmalonic aciduria cblB type	Associate	34796408
Methylmalonic Aciduria due to Methylmalonyl CoA Mutase Deficiency	Associate	1346616, 1670635, 1968706, 31466887, 35660814, 7912889
Neoplasms	Associate	37052042
Neoplasms Squamous Cell	Associate	24114512
Neuroblastoma	Associate	30428564
Neurologic Manifestations	Associate	31466887
Optic Atrophy Hereditary Leber	Associate	37989876
Organizing Pneumonia	Associate	32013889
Osteosarcoma	Associate	27314445
Propionic Acidemia	Associate	17966092, 31449969
Tuberculosis Pulmonary	Associate	36275653

MMUT (methylmalonyl-CoA mutase)